Acanthosis nigricans-muscle cramps-acral enlargement syndrome, also known as Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome is an extremely rare genetic disorder which is characterized by the appearance of acanthosis nigricans, insulin resistance, muscle cramps of severe intensity, and acral hypertrophy/enlargement.[1][2][3] Only 2 cases have been reported in medical literature.
very rare, only 2 cases known to medical literature
It was first discovered when Jeffrey Flier and his colleagues described two siblings of the opposite sex with the symptoms mentioned above. (plus: large, chunky hands), the sister had virilized polycystic ovaries.[4] After being treated with dilantin, the cramps' severity lowered and the brother's insulin resistance also lowered.[5][6] The inheritance pattern of this disorder is thought to be autosomal recessive.[7]
References
^"Acanthosis nigricans muscle cramps acral enlargement - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-21.
^Flier, Jeffrey S.; Young, James B.; Landsberg, Lewis (1980-10-23). "Familial Insulin Resistance with Acanthosis Nigricans, Acral Hypertrophy, and Muscle Cramps". New England Journal of Medicine. 303 (17): 970–973. doi:10.1056/NEJM198010233031704. ISSN 0028-4793. PMID 6997748.
^"OMIM Entry - 200170 - ACANTHOSIS NIGRICANS WITH MUSCLE CRAMPS AND ACRAL ENLARGEMENT". omim.org. Retrieved 2022-05-21.
^Flier, J. S.; Young, J. B.; Landsberg, L. (1980-10-23). "Familial insulin resistance with acanthosis nigricans, acral hypertrophy, and muscle cramps". The New England Journal of Medicine. 303 (17): 970–973. doi:10.1056/NEJM198010233031704. ISSN 0028-4793. PMID 6997748.
^"Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (Concept Id: C4305258) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-21.
March 24, 2023
acanthosis, nigricans, muscle, cramps, acral, enlargement, syndrome, also, known, acanthosis, nigricans, insulin, resistance, muscle, cramps, acral, enlargement, syndrome, extremely, rare, genetic, disorder, which, characterized, appearance, acanthosis, nigric. Acanthosis nigricans muscle cramps acral enlargement syndrome also known as Acanthosis nigricans insulin resistance muscle cramps acral enlargement syndrome is an extremely rare genetic disorder which is characterized by the appearance of acanthosis nigricans insulin resistance muscle cramps of severe intensity and acral hypertrophy enlargement 1 2 3 Only 2 cases have been reported in medical literature Acanthosis nigricans muscle cramps acral enlargement syndromeOther namesAcanthosis nigricans insulin resistance muscle cramps acral enlargementSpecialtyMedical geneticsSymptomsKidney enlargement localized cutaneous hyperpigmentation insulin resistance muscle cramps and polycystic ovary syndrome in women Usual onsetBirthDurationLife longCausesAutosomal recessive inheritancePreventionnoneMedicationDilantinPrognosisGood to OkFrequencyvery rare only 2 cases known to medical literatureIt was first discovered when Jeffrey Flier and his colleagues described two siblings of the opposite sex with the symptoms mentioned above plus large chunky hands the sister had virilized polycystic ovaries 4 After being treated with dilantin the cramps severity lowered and the brother s insulin resistance also lowered 5 6 The inheritance pattern of this disorder is thought to be autosomal recessive 7 References Edit Acanthosis nigricans muscle cramps acral enlargement About the Disease Genetic and Rare Diseases Information Center rarediseases info nih gov Retrieved 2022 05 21 RESERVED INSERM US14 ALL RIGHTS Orphanet Acanthosis nigricans insulin resistance muscle cramps acral enlargement syndrome www orpha net Acanthosis nigricans insulin resistance muscle cramps acral enlargement syndrome Concept Id C1860215 MedGen NCBI www ncbi nlm nih gov Retrieved 2022 05 21 Flier Jeffrey S Young James B Landsberg Lewis 1980 10 23 Familial Insulin Resistance with Acanthosis Nigricans Acral Hypertrophy and Muscle Cramps New England Journal of Medicine 303 17 970 973 doi 10 1056 NEJM198010233031704 ISSN 0028 4793 PMID 6997748 OMIM Entry 200170 ACANTHOSIS NIGRICANS WITH MUSCLE CRAMPS AND ACRAL ENLARGEMENT omim org Retrieved 2022 05 21 Flier J S Young J B Landsberg L 1980 10 23 Familial insulin resistance with acanthosis nigricans acral hypertrophy and muscle cramps The New England Journal of Medicine 303 17 970 973 doi 10 1056 NEJM198010233031704 ISSN 0028 4793 PMID 6997748 Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Concept Id C4305258 MedGen NCBI www ncbi nlm nih gov Retrieved 2022 05 21 Retrieved from https en wikipedia org w index php title Acanthosis nigricans muscle cramps acral enlargement syndrome amp oldid 1096936056, wikipedia, wiki, book, books, library,
